Variant report

Variant	rs35686518
Chromosome Location	chr1:169450264-169450265
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169449894..169459462-chr1:169475885..169501963,75	MCF-7	breast:
2	chr1:169429762..169432470-chr1:169449878..169451863,2	MCF-7	breast:
3	chr1:169336376..169338825-chr1:169448253..169450809,2	K562	blood:
4	chr1:169433035..169435323-chr1:169448952..169451529,2	K562	blood:

Variant related genes	Relation type
ENSG00000117475	Chromatin interaction
ENSG00000143156	Chromatin interaction
ENSG00000117477	Chromatin interaction
ENSG00000198734	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1028180	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12727318	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12729761	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12733037	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12744859	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12752953	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1533518	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1533519	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16862097	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs16862133	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16862153	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs16862176	0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs16862180	0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16862217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16862236	0.88[EUR][1000 genomes]
rs1883167	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2037249	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2203743	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2271762	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2272801	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs34057682	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34373126	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34599582	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34640648	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs34858340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34989506	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35171152	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35918529	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3765229	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3766097	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3862937	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4551642	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4590731	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs57295069	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs58809384	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs66512221	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs66937324	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs67795749	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72637232	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv831871	chr1:169320673-169486680	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1001454	chr1:169387381-169465274	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1005941	chr1:169410486-169456393	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169430000-169452000	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr1:169430000-169452000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:169430000-169452600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:169430000-169452800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:169430000-169452800	Weak transcription	Brain Germinal Matrix	brain
6	chr1:169430000-169452800	Weak transcription	HMEC	breast
7	chr1:169430000-169452800	Weak transcription	NHDF-Ad	bronchial
8	chr1:169430000-169452800	Weak transcription	NHEK	skin
9	chr1:169430000-169453400	Weak transcription	Colonic Mucosa	Colon
10	chr1:169430000-169453800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:169430000-169454000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:169430000-169454400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:169430000-169454400	Weak transcription	Spleen	Spleen
14	chr1:169430200-169450600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:169430200-169451800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:169430200-169452600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr1:169430200-169452600	Weak transcription	NH-A	brain
18	chr1:169430200-169453200	Weak transcription	Esophagus	oesophagus
19	chr1:169430600-169452800	Weak transcription	Small Intestine	intestine
20	chr1:169431200-169452000	Weak transcription	GM12878-XiMat	blood
21	chr1:169434600-169452600	Weak transcription	Primary B cells from cord blood	blood
22	chr1:169435200-169452800	Weak transcription	Fetal Kidney	kidney
23	chr1:169437400-169450600	Weak transcription	Brain Angular Gyrus	brain
24	chr1:169437400-169452600	Weak transcription	HSMMtube	muscle
25	chr1:169437400-169452600	Weak transcription	Osteobl	bone
26	chr1:169437400-169452800	Weak transcription	Aorta	Aorta
27	chr1:169437400-169452800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:169437800-169452600	Weak transcription	Fetal Brain Female	brain
29	chr1:169438600-169452200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:169438600-169453200	Weak transcription	Fetal Lung	lung
31	chr1:169438800-169452600	Weak transcription	HSMM	muscle
32	chr1:169439200-169452000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr1:169439600-169452600	Weak transcription	Primary T cells from cord blood	blood
34	chr1:169443000-169452800	Weak transcription	A549	lung
35	chr1:169443800-169452800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr1:169444200-169451800	Weak transcription	Brain Substantia Nigra	brain
37	chr1:169444200-169454000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:169444600-169452600	Weak transcription	Stomach Mucosa	stomach
39	chr1:169444600-169452800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:169446600-169453000	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:169446800-169451000	Weak transcription	Left Ventricle	heart
42	chr1:169446800-169452000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr1:169446800-169452000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr1:169446800-169452000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr1:169446800-169452000	Weak transcription	Dnd41	blood
46	chr1:169446800-169452400	Weak transcription	Brain Anterior Caudate	brain
47	chr1:169446800-169452600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:169446800-169452600	Weak transcription	Fetal Muscle Leg	muscle
49	chr1:169446800-169452600	Weak transcription	Placenta	Placenta
50	chr1:169446800-169452600	Weak transcription	Fetal Stomach	stomach

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